Individual #00208995

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Finland
Population -
Age/Death <00y (before )
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases FADS
Owner name Anna Hakonen


Phenotypes

akinesia, fetal, deformation sequence (FADS) (FADS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000173730 Fetal akinesia sequence - - Familial, autosomal recessive - <00y - - - Anna Hakonen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210051 DNA SEQ-NG-I - WES results confirmed with Sanger sequencing SLC18A3 1 Anna Hakonen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
10 Both (homozygous) +?/. g.50819902C>A - - - SLC18A3_000003 - Hakonen et al., Am J Med Genet Part A (in press) - - Germline yes - - 0 - Anna Hakonen SLC18A3 - - - - - - NM_003055.2:c.1116C>A - 5, pathogenic (recessive) r.(?) p.(Cys372*) - - - - - - - - - - - - - - - - - - -
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